Matches in SemOpenAlex for { <https://semopenalex.org/work/W1982481497> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W1982481497 endingPage "1170" @default.
- W1982481497 startingPage "1169" @default.
- W1982481497 abstract "Niemann-Pick type C (NPC) disease is a rare, usually fatal neurodegenerative lysosomal storage disorder. It is inherited in an autosomal-recessive fashion and caused by mutation of either NPC1 (95%) or NPC2 gene.1 Age at onset is broadly variable, ranging from neonatal fatal neurovisceral manifestations to a primarily neurodegenerative disease in adulthood that may be recognized as late as 70 years of age.1 Due to its diverse clinical manifestation, correct diagnosis is challenging, frequencies might be underestimated, and diagnosis may be delayed, in particular in patients with adult-onset disease. This is particularly momentous because a potential therapy for deceleration of disease progression is now available.2" @default.
- W1982481497 created "2016-06-24" @default.
- W1982481497 creator A5015600775 @default.
- W1982481497 creator A5031917279 @default.
- W1982481497 creator A5045392685 @default.
- W1982481497 creator A5052522766 @default.
- W1982481497 creator A5056436471 @default.
- W1982481497 creator A5068418202 @default.
- W1982481497 creator A5076004371 @default.
- W1982481497 creator A5086201841 @default.
- W1982481497 date "2013-02-20" @default.
- W1982481497 modified "2023-10-18" @default.
- W1982481497 title "Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy" @default.
- W1982481497 cites W1847168837 @default.
- W1982481497 cites W2135711258 @default.
- W1982481497 cites W2137234884 @default.
- W1982481497 cites W2155503300 @default.
- W1982481497 doi "https://doi.org/10.1212/wnl.0b013e31828869f9" @default.
- W1982481497 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23427322" @default.
- W1982481497 hasPublicationYear "2013" @default.
- W1982481497 type Work @default.
- W1982481497 sameAs 1982481497 @default.
- W1982481497 citedByCount "29" @default.
- W1982481497 countsByYear W19824814972013 @default.
- W1982481497 countsByYear W19824814972014 @default.
- W1982481497 countsByYear W19824814972015 @default.
- W1982481497 countsByYear W19824814972016 @default.
- W1982481497 countsByYear W19824814972017 @default.
- W1982481497 countsByYear W19824814972018 @default.
- W1982481497 countsByYear W19824814972019 @default.
- W1982481497 countsByYear W19824814972020 @default.
- W1982481497 countsByYear W19824814972021 @default.
- W1982481497 countsByYear W19824814972022 @default.
- W1982481497 countsByYear W19824814972023 @default.
- W1982481497 crossrefType "journal-article" @default.
- W1982481497 hasAuthorship W1982481497A5015600775 @default.
- W1982481497 hasAuthorship W1982481497A5031917279 @default.
- W1982481497 hasAuthorship W1982481497A5045392685 @default.
- W1982481497 hasAuthorship W1982481497A5052522766 @default.
- W1982481497 hasAuthorship W1982481497A5056436471 @default.
- W1982481497 hasAuthorship W1982481497A5068418202 @default.
- W1982481497 hasAuthorship W1982481497A5076004371 @default.
- W1982481497 hasAuthorship W1982481497A5086201841 @default.
- W1982481497 hasConcept C102747710 @default.
- W1982481497 hasConcept C118552586 @default.
- W1982481497 hasConcept C126322002 @default.
- W1982481497 hasConcept C142724271 @default.
- W1982481497 hasConcept C170493617 @default.
- W1982481497 hasConcept C187212893 @default.
- W1982481497 hasConcept C2777767895 @default.
- W1982481497 hasConcept C2778264360 @default.
- W1982481497 hasConcept C2778552423 @default.
- W1982481497 hasConcept C2779134260 @default.
- W1982481497 hasConcept C2779483572 @default.
- W1982481497 hasConcept C2780635549 @default.
- W1982481497 hasConcept C2780906641 @default.
- W1982481497 hasConcept C2984863031 @default.
- W1982481497 hasConcept C71924100 @default.
- W1982481497 hasConceptScore W1982481497C102747710 @default.
- W1982481497 hasConceptScore W1982481497C118552586 @default.
- W1982481497 hasConceptScore W1982481497C126322002 @default.
- W1982481497 hasConceptScore W1982481497C142724271 @default.
- W1982481497 hasConceptScore W1982481497C170493617 @default.
- W1982481497 hasConceptScore W1982481497C187212893 @default.
- W1982481497 hasConceptScore W1982481497C2777767895 @default.
- W1982481497 hasConceptScore W1982481497C2778264360 @default.
- W1982481497 hasConceptScore W1982481497C2778552423 @default.
- W1982481497 hasConceptScore W1982481497C2779134260 @default.
- W1982481497 hasConceptScore W1982481497C2779483572 @default.
- W1982481497 hasConceptScore W1982481497C2780635549 @default.
- W1982481497 hasConceptScore W1982481497C2780906641 @default.
- W1982481497 hasConceptScore W1982481497C2984863031 @default.
- W1982481497 hasConceptScore W1982481497C71924100 @default.
- W1982481497 hasIssue "12" @default.
- W1982481497 hasLocation W19824814971 @default.
- W1982481497 hasLocation W19824814972 @default.
- W1982481497 hasOpenAccess W1982481497 @default.
- W1982481497 hasPrimaryLocation W19824814971 @default.
- W1982481497 hasRelatedWork W1971365671 @default.
- W1982481497 hasRelatedWork W1982481497 @default.
- W1982481497 hasRelatedWork W2073977520 @default.
- W1982481497 hasRelatedWork W2083930723 @default.
- W1982481497 hasRelatedWork W2107766190 @default.
- W1982481497 hasRelatedWork W2147612731 @default.
- W1982481497 hasRelatedWork W2311817391 @default.
- W1982481497 hasRelatedWork W3119601781 @default.
- W1982481497 hasRelatedWork W4220767587 @default.
- W1982481497 hasRelatedWork W4294286364 @default.
- W1982481497 hasVolume "80" @default.
- W1982481497 isParatext "false" @default.
- W1982481497 isRetracted "false" @default.
- W1982481497 magId "1982481497" @default.
- W1982481497 workType "article" @default.